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Hereditary spherocytic anemia

Congenital spherocytic hemolytic anemia; Spherocytosis; Hemolytic anemia - spherocytic

Hereditary spherocytic anemia is a rare disorder of the surface layer (membrane) of red blood cells. It leads to red blood cells that are shaped like spheres, and premature breakdown of red blood cells (hemolytic anemia).

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Red blood cells, normal
Red blood cells, spherocytosis
Blood cells

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Causes

This disorder is caused by a defective gene. The defect results in an abnormal red blood cell membrane. The affected cells have a smaller surface area for their volume than normal red blood cells, and can break open easily.

The anemia can vary from mild to severe. In severe cases the disorder may be found in early childhood. In mild cases it may go unnoticed until adulthood.

This disorder is most common in people of northern European descent, but it has been found in all races.

Symptoms

Infants may have yellowing of the skin and eyes (jaundice) and pale coloring (pallor).

Other symptoms may include:

Exams and Tests

In most cases, the spleen is enlarged.

Laboratory tests can help diagnose this condition. Tests may include:

Treatment

Surgery to remove the spleen (splenectomy) cures the anemia but does not correct the abnormal cell shape.

Families with a history of spherocytosis should have their children screened for this disorder.

Children should wait until age 5 to have splenectomy because of the infection risk. In mild cases discovered in adults, it may not be necessary to remove the spleen.

Children and adults should be given a pneumococcal vaccine before spleen removal surgery. They also should receive folic acid supplements. Additional vaccines may be needed based on the person's history.

Support Groups

The following resources can provide more information on hereditary spherocytic anemia:

Outlook (Prognosis)

This outcome is usually good with treatment. After the spleen is removed, the life span of the red blood cell returns to normal.

Possible Complications

Complications may include:

When to Contact a Medical Professional

Call your health care provider if:

Prevention

This is an inherited disorder and may not be preventable. Being aware of your risk, such as a family history of the disorder, may help you get diagnosed and treated early.

Related Information

Hemolytic anemia
Anemia
Gallstones

References

Gallagher PG. Red blood cell membrane disorders. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 45.

Segel GB, Casey D. Hereditary spherocytosis. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 458.

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Review Date: 1/19/2018  

Reviewed By: Richard LoCicero, MD, private practice specializing in hematology and medical oncology, Longstreet Cancer Center, Gainesville, GA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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